osteopoikilosis

Osteopoikilosis is inherited as an autosomal dominant trait characterized by mutations in LEMD3 on chromosome 12q14.

On radiographs, the bones show multiple discrete or clustered foci of radiopacity with uniform density, giving the bone a spotted appearance.

Usually, the lesions are symmetrical and affect both the epiphyseal and metaphyseal zones.

Most commonly, the lesions involve the small bones of the hands and feet, and the ends of the long bones of the extremities.

The microscopic features are similar to those of solitary bone islands.

Some cases of osteopoikilosis have been reported in association with cutaneous nodules, which usually prove on microscopic examination to be fibrous tissue resembling scleroderma-like lesions, or keloids, contituting the Buschke-Ollendorff syndrome.